ライフサイエンスコーパス: autoinflammatory syndrome

1 on we term 'cleavage-resistant RIPK1-induced autoinflammatory syndrome'.

2 some-related genes might be involved in this autoinflammatory syndrome.

3 DA2 deficiency, a rare recessively inherited autoinflammatory syndrome.

4 n healthy control subjects and patients with autoinflammatory syndrome.

5 from gene mutations is related to monogenic autoinflammatory syndromes.

6 the adaptive immune system in patients with autoinflammatory syndromes.

7 in NLRP3 are associated with recurrent fever/autoinflammatory syndromes.

8 lease is central to the pathogenesis of many autoinflammatory syndromes.

9 le dermatomyositis, juvenile scleroderma and autoinflammatory syndromes.

10 ovide insights regarding the pathogenesis of autoinflammatory syndromes.

11 editerranean fever, 2 archetypical monogenic autoinflammatory syndromes.

12 Point mutations in NLRC4 cause autoinflammatory syndromes.

13 of KFH may also occur in other NLRP3-linked autoinflammatory syndromes.

14 f patients with relapsing polychondritis and autoinflammatory syndromes.

15 une system activation owing to infections or autoinflammatory syndromes.

16 Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene have been recen

17 patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryop

18 me, also known as "cryopyrin," "cold-induced autoinflammatory syndrome 1" (CIAS1), or nacht domain-,

19 such as Muckle-Wells syndrome, familial cold autoinflammatory syndrome and urate crystal-induced peri

20 ious potential complication of the inherited autoinflammatory syndromes and frequently results in end

21 tivation of inflammasomes is associated with autoinflammatory syndromes and other pathologies.

22 in the pathogenesis of proteasome-associated autoinflammatory syndromes and OTULIN deficiency.

23 d inflammasome activation is associated with autoinflammatory syndromes and several common diseases.

24 These include rare diseases such as autoinflammatory syndromes and urticarial vasculitis in

25 orders: Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and chronic infantile neurolo

26 nesses, Muckle-Wells syndrome, familial cold autoinflammatory syndrome, and NOMID/CINCA.

27 s on recent progress in our understanding of autoinflammatory syndromes, and how insights into these

28 n and progression of cardiovascular disease, autoinflammatory syndromes, and neuroinflammation.

29 ations in inflammasome-related genes lead to autoinflammatory syndromes, and review the contribution

30 The autoinflammatory syndromes are systemic disorders charac

31 r-associated periodic syndrome (TRAPS) is an autoinflammatory syndrome associated with mutations in t

32 onocytes expressing familial cold-associated autoinflammatory syndrome-associated Cryopyrin mutations

33 and IL1RN, cause two severe and early-onset autoinflammatory syndromes, CAPS (cryopyrin associated p

34 Here, we show that one of the autoinflammatory syndrome-causing mutants of NLRC4, H443

35 1 cause Aicardi-Goutieres Syndrome (AGS), an autoinflammatory syndrome characterized by chronic type

36 tugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contrac

37 4416) is a rare autosomal dominant inherited autoinflammatory syndrome characterized by pyogenic ster

38 Familial cold autoinflammatory syndrome (FCAS) and the related autoinf

39 tation, H443P in NLRC4, causes familial cold autoinflammatory syndrome (FCAS) characterized by cold-i

40 Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominan

41 Familial cold autoinflammatory syndrome (FCAS) is caused by mutations

42 yndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MW

43 s Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset mul

44 flammatory disorders including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome

45 Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly k

46 New models for the pathogenesis of several autoinflammatory syndromes have been proposed, including

47 and clinical characterizations of monogenic autoinflammatory syndromes have led to ground breaking i

48 nesis to the pathogenesis of rarer monogenic autoinflammatory syndromes, highlight specific ubiquitin

49 d acne; Muckle-Wells syndrome; familial cold autoinflammatory syndrome; immunodysregulation, polyendo

50 Here, we characterized a pediatric autoinflammatory syndrome in 3 unrelated male patients w

51 le, previously shown to cause OTULIN-related autoinflammatory syndrome in humans, induces a similar i

52 ic juvenile idiopathic arthritis (JIA) is an autoinflammatory syndrome in which the myelomonocytic li

53 mation and thus novel therapeutic targets in autoinflammatory syndromes including other IL-1beta medi

54 IRA have encouraged their wider use in other autoinflammatory syndromes including the classic heredit

55 l of diseases presenting with fever includes autoinflammatory syndromes, infections associated with i

56 tranded-DNA-sensing adaptor STING develop an autoinflammatory syndrome known as STING-associated vasc

57 ee autoinflammatory disorders: familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neo

58 cryopyrin are associated with familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neo

59 phenotype we have named NEMO deleted exon 5 autoinflammatory syndrome (NDAS), distinct from the immu

60 nic immune dysregulation as in autoimmune or autoinflammatory syndromes, or in more common infectious

61 -of-function mutations causes OTULIN-related autoinflammatory syndrome (ORAS), while OTULIN haploinsu

62 inflammatory condition termed OTULIN-related autoinflammatory syndrome (ORAS).

63 ich is classified as a proteasome-associated autoinflammatory syndrome (PRAAS).

64 Goutieres syndrome and proteasome-associated autoinflammatory syndromes (PRAAS, also known as CANDLE)

65 Proteasome-associated autoinflammatory syndromes (PRAASs) form a family of rec

66 Monogenic autoinflammatory syndromes present with excessive system

67 ency, termed as otulipenia or OTULIN-related autoinflammatory syndrome, present with early onset seve

68 elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children

69 g genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutations in th

70 ans, NLR mutations are often associated with autoinflammatory syndromes, suggesting a complex role fo

71 in cholesterol metabolism result in a severe autoinflammatory syndrome termed mevalonate kinase defic

72 OF in mice was sufficient to induce a lethal autoinflammatory syndrome that mimicked human HLH.

73 c syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that results from mutations in

74 outieres syndrome, and proteasome-associated autoinflammatory syndromes that link activation of the v

75 cal and pathogenic description of this novel autoinflammatory syndrome, thereby expanding the clinica

76 ctrum of diseases ranging from familial cold autoinflammatory syndrome to Muckle-Wells syndrome to NO

77 uses Muckle-Wells syndrome and familial cold autoinflammatory syndrome, two dominantly inherited diso

78 A2) deficiency is a rare autosomal recessive autoinflammatory syndrome, typically presenting in young

79 y identified as the cause of the adult-onset autoinflammatory syndrome VEXAS (vacuoles, E1 enzyme, X

80 A novel autoinflammatory syndrome was recently described in male

81 cial role of IL-1beta in the pathogenesis of autoinflammatory syndromes, we hypothesized that IL-1bet

82 et disease is a chronic, relapsing-remitting autoinflammatory syndrome with a strong HLA-B*51 associa

83 witched B cells and 'IgD-armed' basophils in autoinflammatory syndromes with periodic fever, our data